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Arterial involvement in genetic diseases
1Department of Pathology, University of Western Ontario, London, Canada.
Insights
Genetic disorders significantly impact arterial health, affecting artery structure and modifying non-genetic diseases like atherosclerosis. This review selectively examines these genetic arterial conditions.
Area of Science:
- Vascular Biology
- Genetics
- Pathology
Background:
- Arterial involvement in genetic disorders is complex and often poorly understood.
- Genetic diseases can affect arteries as primary targets or secondary manifestations.
- A selective approach is necessary due to the vast number of genetic disorders.
Purpose of the Study:
- To summarize the arterial wall's nature and its interaction with genetic diseases.
- To explore the "affinity" of genetic disorders for specific arterial types, segments, and layers.
- To illustrate how genetic conditions impact arteries through malformations, makeup alterations, disease modification, or characteristic lesions.
Main Methods:
- Selective review of literature on genetic disorders and arterial involvement.
- Categorization of arterial effects: congenital malformations, makeup alteration, modification of non-genetic diseases, and characteristic lesions.
- Inclusion of electron microscopic findings from laboratory studies, some previously unpublished.
Main Results:
- Genetic diseases can cause congenital arterial malformations.
- Arterial "makeup" can be altered without distinct lesions (e.g., tuberous sclerosis).
- Genetic conditions can modify non-genetic arterial diseases (e.g., Wolman's disease) or cause specific lesions (e.g., Ehlers-Danlos syndrome IV).
Conclusions:
- Genetic disorders exhibit diverse effects on the arterial system.
- Understanding these effects requires a selective, detailed approach.
- A coordinated, multidisciplinary strategy is crucial for studying genetic diseases affecting arteries.
Abstract:
Whereas the information on the subject of arterial status is sketchy and haphazard with respect to any one genetic disorder, the number of these diseases would have precluded the provision of a critical review within the scope of this presentation. Thus, it was deemed more meaningful to approach the subject selectively. A brief summary was provided on the nature of the arterial wall and its involvement in genetic diseases either as a primary target or a secondarily affected organ, and on "affinity" of various genetic disorders for a type (elastic, muscular, or smallest), segment (proximal, distal), and layer (intimal, medial, adventitial) of the arterial tree or the arterial wall, respectively. Genetic diseases may affect arteries by "causing" (a) congenital malformations, (b) alteration of the arterial "makeup" without necessarily producing definable lesions, and (c) modification of a nongenetic arterial disease (e.g., atherosclerosis), or by "producing" (d) arterial lesions that are characteristic of (even specific for?) a given genetic disorder. A few examples were selected to illustrate (b) (tuberous sclerosis; infantile GM1-gangliosidosis), (c) Wolman's disease; familial hyperlipoproteinemias), and (d) [Hurler's disease, neurofibromatosis; Ehlers-Danlos syndrome (type IV)]. Whenever available, the results of electron microscopic studies carried out in our laboratories were included. Some of these have not been reported in the literature to date. The need for a coordinated multidisciplinary approach to the study of genetic diseases in general is stressed in closing.